Variant #0000564841 (NC_000018.9:g.43519717T>C, NM_020964.2:c.1948A>G (EPG5))

Chromosome 18
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.43519717T>C
DNA change (hg38) g.45939751T>C
Published as EPG5(NM_020964.3):c.1948A>G (p.T650A)
ISCN -
DB-ID EPG5_000090
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPG5 NM_020964.2 ?/. - c.1948A>G r.(?) p.(Thr650Ala)


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